"GeneDx"[submitter] AND "DOCK8"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58437	GRCh38/hg38 9p24.3(chr9:52389-356138)x3	DOCK8, DOCK8-AS1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 152051	GRCh38/hg38 9p24.3(chr9:62525-386070)x3	DOCK8, DOCK8-AS1 +16 more	Copy number gain	See cases	GLikely benign
Select item 144972	GRCh38/hg38 9p24.3(chr9:163131-271257)x3	DOCK8, DOCK8-AS1 +5 more	Copy number gain	See cases	GBenign
Select item 145917	GRCh38/hg38 9p24.3(chr9:185579-288161)x4	DOCK8, DOCK8-AS1 +7 more	Copy number gain	See cases	GLikely benign
Select item 151952	GRCh38/hg38 9p24.3(chr9:211086-314969)x3	DOCK8, DOCK8-AS1 +7 more	Copy number gain	See cases	GBenign
Select item 145922	GRCh38/hg38 9p24.3(chr9:211086-271257)x3	DOCK8, DOCK8-AS1 +4 more	Copy number gain	See cases	GLikely benign
Select item 59047	GRCh38/hg38 9p24.3(chr9:211086-274576)x1	DOCK8, DOCK8-AS1 +4 more	Copy number loss	See cases	GUncertain significance
Select item 1279302	NC_000009.12:g.214593T>C	DOCK8, DOCK8-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1187835	NC_000009.12:g.214679G>A	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1224206	NC_000009.12:g.214706G>C	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1220363	NC_000009.12:g.214719C>T	DOCK8-AS1, LOC130001435 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 674418	NM_203447.3(DOCK8):c.-173A>G	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant)	not specified +1 more	GBenign
Select item 1321799	NC_000009.12:g.214847A>C	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 369626	NM_203447.3(DOCK8):c.-113C>T	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided +2 more	GBenign
Select item 366225	NM_203447.4(DOCK8):c.-69T>C	LOC130001436, DOCK8 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Combined immunodeficiency due to DOCK8 deficiency +1 more	GBenign
Select item 512917	NM_203447.4(DOCK8):c.-12C>T	DOCK8-AS1, DOCK8	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 384896	NM_203447.4(DOCK8):c.12G>T (p.Leu4=)	DOCK8-AS1, LOC130001437 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive hyper-IgE syndrome +1 more	GLikely benign
Select item 429234	NM_203447.4(DOCK8):c.52A>G (p.Arg18Gly)	DOCK8, DOCK8-AS1 +1 more (R18G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 673270	NM_203447.4(DOCK8):c.53+28T>C	DOCK8, DOCK8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GBenign
Select item 1204467	NM_203447.4(DOCK8):c.53+31G>T	DOCK8, DOCK8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 235456	NM_203447.4(DOCK8):c.53+52T>G	DOCK8, DOCK8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1233460	NM_203447.4(DOCK8):c.53+57A>C	DOCK8, DOCK8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1205466	NM_203447.4(DOCK8):c.53+144C>G	DOCK8, DOCK8-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1270406	NM_203447.4(DOCK8):c.53+229T>C	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 676901	NM_203447.4(DOCK8):c.53+240A>C	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1206483	NM_203447.4(DOCK8):c.53+248G>A	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1250184	NM_203447.4(DOCK8):c.53+267A>G	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1281486	NM_203447.4(DOCK8):c.53+300G>A	DOCK8, DOCK8-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 59063	GRCh38/hg38 9p24.3-24.1(chr9:220253-5140455)x1	AK3, CDC37L1 +120 more	Copy number loss	See cases	GPathogenic
Select item 151941	GRCh38/hg38 9p24.3(chr9:254654-329684)x3	DOCK8, LOC126860552 +2 more	Copy number gain	See cases	GBenign
Select item 145250	GRCh38/hg38 9p24.3(chr9:271257-314969)x3	DOCK8, LOC126860552 +2 more	Copy number gain	See cases	GBenign
Select item 1239145	NM_203447.4(DOCK8):c.54-223dup	DOCK8	Duplication (intron variant)	not provided	GBenign
Select item 1708644	NM_203447.4(DOCK8):c.54-177T>G	DOCK8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673882	NM_203447.4(DOCK8):c.54-172T>C	DOCK8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674419	NM_203447.4(DOCK8):c.54-160C>T	DOCK8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675135	NM_203447.4(DOCK8):c.54-109T>C	DOCK8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675136	NM_203447.4(DOCK8):c.54-93A>G	DOCK8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675214	NM_203447.4(DOCK8):c.54-55T>C	DOCK8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 265359	NM_203447.4(DOCK8):c.54-1G>T	DOCK8	Single nucleotide variant (splice acceptor variant)	Autosomal recessive hyper-IgE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 137155	NM_203447.4(DOCK8):c.65C>T (p.Ala22Val)	DOCK8 (A22V)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency +3 more	GBenign
Select item 675452	NM_203447.4(DOCK8):c.156+29G>A	DOCK8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675137	NM_203447.4(DOCK8):c.156+93A>G	DOCK8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675943	NM_203447.4(DOCK8):c.156+135T>C	DOCK8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673663	NM_203447.4(DOCK8):c.156+304A>G	DOCK8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277833	NM_203447.4(DOCK8):c.156+1252C>G	DOCK8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 377792	NM_203447.4(DOCK8):c.156+1383T>C	DOCK8	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1291530	NM_203447.4(DOCK8):c.156+1431T>C	DOCK8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264710	NM_203447.4(DOCK8):c.156+1454dup	DOCK8	Duplication (intron variant)	not provided	GBenign
Select item 1209520	NM_203447.4(DOCK8):c.157-310G>C	DOCK8, LOC126860552	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 137156	NM_203447.4(DOCK8):c.187G>A (p.Asp63Asn)	LOC126860552, DOCK8 (D63N)	Single nucleotide variant (5 prime UTR variant +1 more)	Combined immunodeficiency due to DOCK8 deficiency +3 more	GBenign
Select item 545914	NM_203447.4(DOCK8):c.197del (p.Gly66fs)	DOCK8, LOC126860552 (G66fs)	Deletion (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 377793	NM_203447.4(DOCK8):c.267C>T (p.Asp89=)	DOCK8, LOC126860552	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 1309465	NM_203447.4(DOCK8):c.271T>A (p.Leu91Met)	DOCK8, LOC126860552 (L23M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452951	NM_203447.4(DOCK8):c.287C>T (p.Thr96Met)	DOCK8, LOC126860552 (T96M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 178766	NM_203447.4(DOCK8):c.289C>A (p.Pro97Thr)	DOCK8, LOC126860552 (P97T +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 380655	NM_203447.4(DOCK8):c.332+9T>G	LOC126860552, DOCK8	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 677814	NM_203447.4(DOCK8):c.332+188G>A	DOCK8, LOC126860552	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250193	NM_203447.4(DOCK8):c.332+216C>G	DOCK8, LOC126860552	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200288	NM_203447.4(DOCK8):c.332+255_332+257del	DOCK8, LOC126860552	Deletion (intron variant)	not provided	GLikely benign
Select item 1225105	NM_203447.4(DOCK8):c.333-273T>A	DOCK8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277132	NM_203447.4(DOCK8):c.333-162C>G	DOCK8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675886	NM_203447.4(DOCK8):c.333-38C>T	DOCK8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198212	NM_203447.4(DOCK8):c.333-30_333-29insTA	DOCK8	Insertion (intron variant)	not provided	GLikely benign
Select item 1232673	NM_203447.4(DOCK8):c.333-29_333-28insAT	DOCK8	Insertion (intron variant)	not specified +1 more	GBenign
Select item 1195395	NM_203447.4(DOCK8):c.333-29C>T	DOCK8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 382962	NM_203447.4(DOCK8):c.333-12C>G	DOCK8	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 366538	NM_203447.4(DOCK8):c.380G>A (p.Arg127His)	DOCK8 (R127H +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 381958	NM_203447.4(DOCK8):c.393C>T (p.Ile131=)	DOCK8	Single nucleotide variant (synonymous variant)	Autosomal recessive hyper-IgE syndrome +1 more	GLikely benign
Select item 180037	NM_203447.4(DOCK8):c.404+16del	DOCK8	Deletion (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1213352	NM_203447.4(DOCK8):c.404+130A>G	DOCK8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217525	NM_203447.4(DOCK8):c.404+183C>T	DOCK8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669944	NM_203447.4(DOCK8):c.404+288T>C	DOCK8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270386	NM_203447.4(DOCK8):c.405-340C>G	DOCK8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257883	NM_203447.4(DOCK8):c.405-322C>G	DOCK8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274231	NM_203447.4(DOCK8):c.405-316C>A	DOCK8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265442	NM_203447.4(DOCK8):c.405-305G>C	DOCK8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242191	NM_203447.4(DOCK8):c.405-153A>T	DOCK8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197508	NM_203447.4(DOCK8):c.405-137G>A	DOCK8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190339	NM_203447.4(DOCK8):c.405-130A>G	DOCK8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230252	NM_203447.4(DOCK8):c.405-103C>G	DOCK8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229917	NM_203447.4(DOCK8):c.405-95T>C	DOCK8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 489173	NM_203447.4(DOCK8):c.405-8C>G	DOCK8	Single nucleotide variant (intron variant)	Autosomal recessive hyper-IgE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 373689	NM_203447.4(DOCK8):c.431_432delinsTT (p.Gly144Val)	DOCK8 (G144V +1 more)	Indel (missense variant)	not specified +1 more	GUncertain significance
Select item 366540	NM_203447.4(DOCK8):c.452G>A (p.Arg151Gln)	DOCK8 (R151Q +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1026975	NM_203447.4(DOCK8):c.472C>G (p.Leu158Val)	DOCK8 (L158V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 389293	NM_203447.4(DOCK8):c.477G>A (p.Pro159=)	DOCK8	Single nucleotide variant (synonymous variant)	Autosomal recessive hyper-IgE syndrome +1 more	GLikely benign
Select item 366541	NM_203447.4(DOCK8):c.494C>T (p.Ser165Leu)	DOCK8 (S165L +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 377794	NM_203447.4(DOCK8):c.528+7C>A	DOCK8	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 366542	NM_203447.4(DOCK8):c.528+13A>G	DOCK8	Single nucleotide variant (intron variant)	Combined immunodeficiency due to DOCK8 deficiency +3 more	GBenign
Select item 1237248	NM_203447.4(DOCK8):c.528+65G>A	DOCK8	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1275321	NM_203447.4(DOCK8):c.528+243del	DOCK8	Deletion (intron variant)	not provided	GBenign
Select item 1242325	NM_203447.4(DOCK8):c.528+241G>C	DOCK8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264220	NM_203447.4(DOCK8):c.528+253C>T	DOCK8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204389	NM_203447.4(DOCK8):c.528+270C>T	DOCK8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202253	NM_203447.4(DOCK8):c.529-140C>G	DOCK8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266362	NM_203447.4(DOCK8):c.529-66A>G	DOCK8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 366544	NM_203447.4(DOCK8):c.550G>A (p.Val184Met)	DOCK8 (V184M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive hyper-IgE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 646461	NM_203447.4(DOCK8):c.559G>A (p.Asp187Asn)	DOCK8 (D187N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2446136	NM_203447.4(DOCK8):c.569G>A (p.Gly190Glu)	DOCK8 (G122E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 468740	NM_203447.4(DOCK8):c.580G>A (p.Val194Ile)	DOCK8 (V194I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive hyper-IgE syndrome +2 more	GLikely benign

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